TCF4 mutations disrupt synaptic function through dysregulation of RIMBP2 in patient-derived cortical neurons

Genetic variation in the transcription factor 4 (TCF4) gene is associated with risk for a variety of developmental and psychiatric conditions, which includes a syndromic form of ASD called Pitt Hopkins Syndrome (PTHS). TCF4 encodes an activity-dependent transcription factor that is highly expressed...

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Detalles Bibliográficos
Autores principales: Davis, Brittany A., Chen, Huei-Ying, Ye, Zengyou, Ostlund, Isaac, Tippani, Madhavi, Das, Debamitra, Sripathy, Srinidhi Rao, Wang, Yanhong, Martin, Jacqueline M., Shim, Gina, Panchwagh, Neel M., Moses, Rebecca L., Farinelli, Federica, Bohlen, Joseph F., Li, Meijie, Luikart, Bryan W., Jaffe, Andrew E., Maher, Brady J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9882330/
https://www.ncbi.nlm.nih.gov/pubmed/36712024
http://dx.doi.org/10.1101/2023.01.19.524788

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